Canonical Allele Identifier: CA017638

Gene: FBN1

Linked Data

• ClinVar Variation Id: 200129
• ClinVar RCV Id: RCV000631943 ; RCV001812167
• dbSNP Id: rs193922243
• MyVariant Identifiers: chr15:g.48704761C>T (hg19) ; chr15:g.48412564C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48412564C>T , CM000677.2:g.48412564C>T	GRCh38
NC_000015.9:g.48704761C>T , CM000677.1:g.48704761C>T	GRCh37
NC_000015.8:g.46492053C>T	NCBI36
NG_008805.2:g.238225G>A , LRG_778:g.238225G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1034+5G>A	ENSP00000453958.2:n.*1034+5G>A
ENST00000674301.2:c.*1739+5G>A	ENSP00000501333.2:n.*1739+5G>A
ENST00000682158.1:n.1607+5G>A
ENST00000682170.1:n.2407+5G>A
ENST00000682767.1:n.1523+5G>A
ENST00000316623.10:c.8226+5G>A MANE Select	ENSP00000325527.5:n.8226+5G>A
ENST00000674301.1:c.3392+5G>A	ENSP00000501333.1:n.3392+5G>A
ENST00000316623.9:c.8226+5G>A	ENSP00000325527.5:n.8226+5G>A
ENST00000559133.5:c.3595+5G>A
ENST00000561429.1:n.481+5G>A
NM_000138.4:c.8226+5G>A , LRG_778t1:c.8226+5G>A	NP_000129.3:n.8226+5G>A
NM_000138.5:c.8226+5G>A MANE Select	NP_000129.3:n.8226+5G>A